Neonate with a perineal mass may rarely present with a rectal duplication cyst. The index case presented with a perineal located mass which on evaluation revealed an exstrophied variant of a duplication cyst neonate associated with supernumerary kidney. She was subsequently managed surgically with the resection of mass and a diversion colostomy. It is understood that these extrophic variants are neither cystic nor tubular and maybe attached to the rectum or vagina but do not communicate with it. Previous reports of such rectal cysts are less than ten in number with this being the only one reported with supernumerary kidney.
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http://dx.doi.org/10.4103/jiaps.jiaps_169_24 | DOI Listing |
Orphanet J Rare Dis
March 2025
Peripheral Nervous System and Muscle Department, Reference Center for Neuromuscular Disorders, Pasteur 2 Hospital, Centre Hospitalier, Universitaire de Nice, Nice University Hospital, SNPM - Hôpital Pasteur 2 - 30 voie Romaine, 06001, Nice CEDEX, France.
Background: Myasthenia gravis (MG) is a rare autoimmune disorder. Several new treatment concepts have emerged in recent years, but access to these treatments varies due to differing national reimbursement regulations, leading to disparities across Europe. This highlights the need for high-quality data collection by stakeholders to establish MG registries.
View Article and Find Full Text PDFChromosome Res
March 2025
Department of Genetics and Reference Center for Developmental Disorders Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, 76000, Rouen, France.
Jumping translocations and jumping-like translocations constitute a rare category of complex chromosomal rearrangements, which are primarily observed in hematologic disorders and solid tumors. This study outlines a complex structural mosaic rearrangement involving a single recipient chromosome and three distinct donor chromosomes, with varying patterns of mosaicism observed across different cell lines. The rearrangement was confirmed by karyotyping, FISH, and array-CGH.
View Article and Find Full Text PDFMedicine (Baltimore)
March 2025
Department of Traditional Chinese Medicine, Weifang Medical University, Weifang, China.
Background: Triple-negative breast cancer (TNBC) is an aggressive metastatic subtype of BC that frequently develops chemoresistance. Immune checkpoint blockers (ICB) have led to breakthroughs in TNBC treatment. This study aimed to explore research trends and public interest in ICB interventions for TNBC.
View Article and Find Full Text PDFNat Commun
March 2025
Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, 100191, China.
Accurate procentriole formation is critical for centriole duplication. However, the holistic transcriptional regulatory mechanisms underlying this process remain elusive. Here, we show that KAT7 crotonylation, facilitated by the crotonyltransferase hMOF, competes against its acetylation regulated by the deacetylase HDAC2 at the K432 residue upon DNA damage stimulation.
View Article and Find Full Text PDFAnn Hematol
March 2025
Department of Biological Sciences, Minnesota State University Mankato, Mankato, USA.
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